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Q96D53

- ADCK4_HUMAN

UniProt

Q96D53 - ADCK4_HUMAN

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Protein

AarF domain-containing protein kinase 4

Gene

ADCK4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May play a role in CoQ10 (COQ10A and/or COQ10B) biosynthesis, which is required for podocyte migration.1 Publication

GO - Molecular functioni

  1. protein serine/threonine kinase activity Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Serine/threonine-protein kinase, Transferase

Names & Taxonomyi

Protein namesi
Recommended name:
AarF domain-containing protein kinase 4 (EC:2.7.11.-)
Gene namesi
Name:ADCK4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:19041. ADCK4.

Subcellular locationi

Mitochondrion membrane 1 Publication; Single-pass membrane protein 1 Publication. Cytoplasmcytosol 1 Publication. Cell membrane 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei92 – 10817HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrion Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 9 (NPHS9) [MIM:615573]: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781R → W in NPHS9. 1 Publication
VAR_070552
Natural varianti286 – 2861D → G in NPHS9. 1 Publication
VAR_070553
Natural varianti320 – 3201R → W in NPHS9. 1 Publication
VAR_070554
Natural varianti343 – 3431R → W in NPHS9. 1 Publication
VAR_070555
Natural varianti477 – 4771R → Q in NPHS9. 1 Publication
VAR_070556

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615573. phenotype.
Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA134988974.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 544544AarF domain-containing protein kinase 4PRO_0000271797Add
BLAST

Proteomic databases

MaxQBiQ96D53.
PaxDbiQ96D53.
PRIDEiQ96D53.

PTM databases

PhosphoSiteiQ96D53.

Expressioni

Tissue specificityi

Widely expressed, including renal podocytes.1 Publication

Gene expression databases

BgeeiQ96D53.
CleanExiHS_ADCK4.
ExpressionAtlasiQ96D53. baseline and differential.
GenevestigatoriQ96D53.

Organism-specific databases

HPAiHPA027229.
HPA027277.
HPA027279.

Interactioni

Subunit structurei

Interacts with COQ6 and COQ7.1 Publication

Protein-protein interaction databases

BioGridi123009. 4 interactions.
IntActiQ96D53. 1 interaction.
STRINGi9606.ENSP00000315118.

Structurei

3D structure databases

ProteinModelPortaliQ96D53.
SMRiQ96D53. Positions 286-394.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini191 – 423233Protein kinaseAdd
BLAST

Sequence similaritiesi

Contains 1 protein kinase domain.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0661.
GeneTreeiENSGT00550000074739.
HOGENOMiHOG000201140.
HOVERGENiHBG061318.
InParanoidiQ96D53.
KOiK08869.
OMAiLPTKGDS.
OrthoDBiEOG7X9G6H.
PhylomeDBiQ96D53.
TreeFamiTF300630.

Family and domain databases

InterProiIPR011009. Kinase-like_dom.
IPR004147. UbiB_dom.
[Graphical view]
PfamiPF03109. ABC1. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96D53-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWLKVGGLLR GTGGQLGQTV GWPCGALGPG PHRWGPCGGS WAQKFYQDGP
60 70 80 90 100
GRGLGEEDIR RAREARPRKT PRPQLSDRSR ERKVPASRIS RLANFGGLAV
110 120 130 140 150
GLGLGVLAEM AKKSMPGGRL QSEGGSGLDS SPFLSEANAE RIVQTLCTVR
160 170 180 190 200
GAALKVGQML SIQDNSFISP QLQHIFERVR QSADFMPRWQ MLRVLEEELG
210 220 230 240 250
RDWQAKVASL EEVPFAAASI GQVHQGLLRD GTEVAVKIQY PGIAQSIQSD
260 270 280 290 300
VQNLLAVLKM SAALPAGLFA EQSLQALQQE LAWECDYRRE AACAQNFRQL
310 320 330 340 350
LANDPFFRVP AVVKELCTTR VLGMELAGGV PLDQCQGLSQ DLRNQICFQL
360 370 380 390 400
LTLCLRELFE FRFMQTDPNW ANFLYDASSH QVTLLDFGAS REFGTEFTDH
410 420 430 440 450
YIEVVKAAAD GDRDCVLQKS RDLKFLTGFE TKAFSDAHVE AVMILGEPFA
460 470 480 490 500
TQGPYDFGSG ETARRIQDLI PVLLRHRLCP PPEETYALHR KLAGAFLACA
510 520 530 540
HLRAHIACRD LFQDTYHRYW ASRQPDAATA GSLPTKGDSW VDPS
Length:544
Mass (Da):60,069
Last modified:October 1, 2002 - v2
Checksum:i4645DF579B9DFA4B
GO
Isoform 2 (identifier: Q96D53-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     123-163: Missing.

Note: No experimental confirmation available.

Show »
Length:503
Mass (Da):55,853
Checksum:i547A81982FE22A6A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti164 – 1663DNS → GTA in BAB14004. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781R → C.1 Publication
Corresponds to variant rs11538384 [ dbSNP | Ensembl ].
VAR_041420
Natural varianti174 – 1741H → R.1 Publication
Corresponds to variant rs3865452 [ dbSNP | Ensembl ].
VAR_029995
Natural varianti178 – 1781R → W in NPHS9. 1 Publication
VAR_070552
Natural varianti286 – 2861D → G in NPHS9. 1 Publication
VAR_070553
Natural varianti318 – 3181T → M.1 Publication
Corresponds to variant rs55899516 [ dbSNP | Ensembl ].
VAR_041421
Natural varianti320 – 3201R → W in NPHS9. 1 Publication
VAR_070554
Natural varianti343 – 3431R → W in NPHS9. 1 Publication
VAR_070555
Natural varianti352 – 3521T → R.1 Publication
Corresponds to variant rs36012476 [ dbSNP | Ensembl ].
VAR_041422
Natural varianti462 – 4621T → M.1 Publication
Corresponds to variant rs56083906 [ dbSNP | Ensembl ].
VAR_041423
Natural varianti477 – 4771R → Q in NPHS9. 1 Publication
VAR_070556

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei123 – 16341Missing in isoform 2. 1 PublicationVSP_022357Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC013114 mRNA. Translation: AAH13114.2.
BC027473 mRNA. Translation: AAH27473.1.
AK022291 mRNA. Translation: BAB14004.1.
CCDSiCCDS12562.1. [Q96D53-1]
CCDS46081.1. [Q96D53-2]
RefSeqiNP_001136027.1. NM_001142555.2. [Q96D53-2]
NP_079152.3. NM_024876.3. [Q96D53-1]
XP_005259328.1. XM_005259271.2. [Q96D53-1]
XP_005259329.1. XM_005259272.2. [Q96D53-1]
XP_005259330.1. XM_005259273.2. [Q96D53-1]
XP_005259331.1. XM_005259274.1. [Q96D53-1]
XP_006723455.1. XM_006723392.1. [Q96D53-1]
XP_006723456.1. XM_006723393.1. [Q96D53-1]
XP_006723457.1. XM_006723394.1. [Q96D53-1]
UniGeneiHs.130712.

Genome annotation databases

EnsembliENST00000243583; ENSP00000243583; ENSG00000123815. [Q96D53-2]
ENST00000324464; ENSP00000315118; ENSG00000123815. [Q96D53-1]
GeneIDi79934.
KEGGihsa:79934.
UCSCiuc002ooq.2. human. [Q96D53-2]
uc002oor.2. human. [Q96D53-1]

Polymorphism databases

DMDMi74731415.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC013114 mRNA. Translation: AAH13114.2 .
BC027473 mRNA. Translation: AAH27473.1 .
AK022291 mRNA. Translation: BAB14004.1 .
CCDSi CCDS12562.1. [Q96D53-1 ]
CCDS46081.1. [Q96D53-2 ]
RefSeqi NP_001136027.1. NM_001142555.2. [Q96D53-2 ]
NP_079152.3. NM_024876.3. [Q96D53-1 ]
XP_005259328.1. XM_005259271.2. [Q96D53-1 ]
XP_005259329.1. XM_005259272.2. [Q96D53-1 ]
XP_005259330.1. XM_005259273.2. [Q96D53-1 ]
XP_005259331.1. XM_005259274.1. [Q96D53-1 ]
XP_006723455.1. XM_006723392.1. [Q96D53-1 ]
XP_006723456.1. XM_006723393.1. [Q96D53-1 ]
XP_006723457.1. XM_006723394.1. [Q96D53-1 ]
UniGenei Hs.130712.

3D structure databases

ProteinModelPortali Q96D53.
SMRi Q96D53. Positions 286-394.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123009. 4 interactions.
IntActi Q96D53. 1 interaction.
STRINGi 9606.ENSP00000315118.

Chemistry

BindingDBi Q96D53.
ChEMBLi CHEMBL5753.
GuidetoPHARMACOLOGYi 1928.

PTM databases

PhosphoSitei Q96D53.

Polymorphism databases

DMDMi 74731415.

Proteomic databases

MaxQBi Q96D53.
PaxDbi Q96D53.
PRIDEi Q96D53.

Protocols and materials databases

DNASUi 79934.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000243583 ; ENSP00000243583 ; ENSG00000123815 . [Q96D53-2 ]
ENST00000324464 ; ENSP00000315118 ; ENSG00000123815 . [Q96D53-1 ]
GeneIDi 79934.
KEGGi hsa:79934.
UCSCi uc002ooq.2. human. [Q96D53-2 ]
uc002oor.2. human. [Q96D53-1 ]

Organism-specific databases

CTDi 79934.
GeneCardsi GC19M041199.
HGNCi HGNC:19041. ADCK4.
HPAi HPA027229.
HPA027277.
HPA027279.
MIMi 615567. gene.
615573. phenotype.
neXtProti NX_Q96D53.
Orphaneti 93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBi PA134988974.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0661.
GeneTreei ENSGT00550000074739.
HOGENOMi HOG000201140.
HOVERGENi HBG061318.
InParanoidi Q96D53.
KOi K08869.
OMAi LPTKGDS.
OrthoDBi EOG7X9G6H.
PhylomeDBi Q96D53.
TreeFami TF300630.

Miscellaneous databases

ChiTaRSi ADCK4. human.
GenomeRNAii 79934.
NextBioi 69870.
PROi Q96D53.
SOURCEi Search...

Gene expression databases

Bgeei Q96D53.
CleanExi HS_ADCK4.
ExpressionAtlasi Q96D53. baseline and differential.
Genevestigatori Q96D53.

Family and domain databases

InterProi IPR011009. Kinase-like_dom.
IPR004147. UbiB_dom.
[Graphical view ]
Pfami PF03109. ABC1. 1 hit.
[Graphical view ]
SUPFAMi SSF56112. SSF56112. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Lymph and Placenta.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-166 (ISOFORM 1).
    Tissue: Mammary gland.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  4. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] CYS-78; ARG-174; MET-318; ARG-352 AND MET-462.
  5. Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiADCK4_HUMAN
AccessioniPrimary (citable) accession number: Q96D53
Secondary accession number(s): Q8TAJ1, Q9HA52
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: October 1, 2002
Last modified: November 26, 2014
This is version 101 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3